VAIHS
MCID: VSC058
MIFTS: 46

Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (VAIHS)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards integrated aliases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

Name: Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 57 74
Adenosine Deaminase 2 Deficiency 57 24 53 25
Ada2 Deficiency 24 53 25 74
Dada2 57 24 53 25
Polyarteritis Nodosa, Childhood-Onset 57 53 40
Pan 57 75 74
Childhood-Onset Polyarteritis Nodosa 53 25
Vasculitis Due to Ada2 Deficiency 53 59
Vasculitis Due to Dada2 53 59
Vaihs 57 74
Polyarteritis Nodosa, Childhood-Onset; Pan 57
Adenosine Deaminase 2 Deficiency; Dada2 57
Deficiency of Adenosine Deaminase 2 24
Polyarteritis Nodosa 74
Periarteritis Nodosa 74
Deficiency of Ada2 25
Sneddon Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable manifestations
variable age at onset, usually in first decade, but can occur later


HPO:

32
vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 615688
MeSH 44 D010488
Orphanet 59 ORPHA404553

Summaries for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Genetics Home Reference : 25 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels. (Inflammation of blood vessels is known as vasculitis.) Other tissues affected by abnormal inflammation can include the skin, gastrointestinal system, liver, kidneys, and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening. Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life. In some people, ADA2 deficiency causes additional immune system abnormalities that increase the risk of bacterial and viral infections. ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), a disorder that causes inflammation of blood vessels throughout the body (systemic vasculitis). However, not all researchers classify ADA2 deficiency as a type of PAN.

MalaCards based summary : Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome, also known as adenosine deaminase 2 deficiency, is related to sneddon syndrome and cutaneous polyarteritis nodosa. An important gene associated with Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome is ADA2 (Adenosine Deaminase 2). The drugs Azathioprine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and liver, and related phenotypes are hypertension and optic atrophy

NIH Rare Diseases : 53 Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset.

OMIM : 57 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650). (615688)

UniProtKB/Swiss-Prot : 74 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome: An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

GeneReviews: NBK544951

Related Diseases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 625)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 12.9
2 cutaneous polyarteritis nodosa 12.9
3 primary polyarteritis nodosa 12.7
4 single-organ polyarteritis nodosa 12.7
5 secondary polyarteritis nodosa 12.6
6 obsolete: pediatric polyarteritis nodosa 12.5
7 retinal vasculitis 11.8
8 autoimmune inner ear disease 11.8
9 eosinophilic granulomatosis with polyangiitis 11.2
10 churg-strauss syndrome 11.2
11 kawasaki disease 11.2
12 microscopic polyangiitis 10.9
13 aneurysm 10.9
14 hepatitis b 10.8
15 neuropathy 10.8
16 glomerulonephritis 10.8
17 mononeuritis multiplex 10.7
18 peripheral nervous system disease 10.7
19 allergic angiitis 10.7
20 familial mediterranean fever 10.7
21 purpura 10.7
22 polyneuropathy 10.7
23 hepatitis 10.6
24 kidney disease 10.6
25 cholecystitis 10.6
26 acute kidney failure 10.6
27 hepatitis c 10.6
28 hepatitis c virus 10.5
29 temporal arteritis 10.5
30 hypereosinophilic syndrome 10.5
31 malignant hypertension 10.5
32 cryoglobulinemia 10.5
33 peritonitis 10.5
34 antiphospholipid syndrome 10.5
35 cerebrovascular disease 10.5
36 colitis 10.5
37 crescentic glomerulonephritis 10.5
38 thrombocytosis 10.5
39 branchiootic syndrome 1 10.4
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
41 rapidly progressive glomerulonephritis 10.4
42 connective tissue disease 10.4
43 coronary artery aneurysm 10.4
44 mononeuropathy 10.4
45 intestinal perforation 10.4
46 orchitis 10.4
47 myopathy 10.4
48 granulomatosis with polyangiitis 10.4
49 sensorineural hearing loss 10.4
50 diarrhea 10.4

Graphical network of the top 20 diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:



Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Symptoms & Phenotypes for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Human phenotypes related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 optic atrophy 32 occasional (7.5%) HP:0000648
3 anemia 32 occasional (7.5%) HP:0001903
4 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
5 leukocytosis 32 occasional (7.5%) HP:0001974
6 lupus anticoagulant 32 occasional (7.5%) HP:0025343
7 splenomegaly 32 very rare (1%) HP:0001744
8 hepatomegaly 32 very rare (1%) HP:0002240
9 portal hypertension 32 very rare (1%) HP:0001409
10 pancytopenia 32 very rare (1%) HP:0001876
11 elevated hepatic transaminase 32 very rare (1%) HP:0002910
12 thrombocytosis 32 very rare (1%) HP:0001894
13 stroke 32 very rare (1%) HP:0001297
14 esophageal varix 32 very rare (1%) HP:0002040
15 leukopenia 32 very rare (1%) HP:0001882
16 urticarial plaque 32 very rare (1%) HP:0030351
17 ataxia 32 HP:0001251
18 arthritis 32 HP:0001369
19 fever 32 HP:0001945
20 immunodeficiency 32 HP:0002721
21 abdominal pain 32 HP:0002027
22 peripheral neuropathy 32 HP:0009830
23 myalgia 32 HP:0003326
24 aphasia 32 HP:0002381
25 ophthalmoplegia 32 HP:0000602
26 agitation 32 HP:0000713
27 headache 32 HP:0002315
28 purpura 32 HP:0000979
29 vasculitis 32 HP:0002633
30 hemiplegia 32 HP:0002301
31 cutis marmorata 32 HP:0000965
32 raynaud phenomenon 32 HP:0030880
33 erythema nodosum 32 HP:0012219
34 panniculitis 32 HP:0012490
35 dilatation 32 HP:0002617

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
leukocytosis
leukopenia
hypogammaglobulinemia (in some patients)

Head And Neck Eyes:
ophthalmoplegia
optic atrophy (1 patient)

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Abdomen Gastrointestinal:
gastrointestinal pain

Cardiovascular Vascular:
hypertension (in some patients)
vasculitis, small and medium vessels
stroke, ischemic
stroke, hemorrhagic
polyarteritis nodosa
more
Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

Skin Nails Hair Skin:
purpura
erythema nodosum
livedo reticularis
livedo racemosa
urticarial rash

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
acute-phase reactants during fever

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis

Clinical features from OMIM:

615688

Drugs & Therapeutics for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Drugs for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4 446-86-6 2265
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
leucovorin Approved Phase 4 58-05-9 143 6006
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Antimetabolites Phase 4
11 Antimetabolites, Antineoplastic Phase 4
12 Folic Acid Antagonists Phase 4
13 Vitamin B9 Phase 4
14 Nucleic Acid Synthesis Inhibitors Phase 4
15 Vitamin B Complex Phase 4
16 Folate Phase 4
17 Dermatologic Agents Phase 4
18 Hormone Antagonists Phase 4
19 Hormones Phase 4
20 Neuroprotective Agents Phase 4
21 Prednisolone acetate Phase 4
22 Methylprednisolone Acetate Phase 4
23 Anti-Inflammatory Agents Phase 4
24 glucocorticoids Phase 4
25 Gastrointestinal Agents Phase 4
26 Antiemetics Phase 4
27 Protective Agents Phase 4
28 Anti-Infective Agents Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Autonomic Agents Phase 4
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
32 Anti-Bacterial Agents Phase 4
33 Antitubercular Agents Phase 4
34 Antibiotics, Antitubercular Phase 4
35
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
36
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
37
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
38
Colchicine Approved Phase 2 64-86-8 6167 2833
39
Dapsone Approved, Investigational Phase 2 80-08-0 2955
40
Mycophenolic acid Approved Phase 2 24280-93-1 446541
41
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
42
Ethanol Approved Phase 2 64-17-5 702
43
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
44
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
45
Mesna Approved, Investigational Phase 2 3375-50-6 598
46
Busulfan Approved, Investigational Phase 2 55-98-1 2478
47 Reverse Transcriptase Inhibitors Phase 2
48 Anti-HIV Agents Phase 2
49 Antiviral Agents Phase 2
50 Anti-Retroviral Agents Phase 2

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors a Prospective Randomized Study in 125 Patients Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
2 Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Comparison of Two Strategies Combining Steroids With or Without Immunosuppressants Completed NCT00307671 Phase 4 prednisone, methylprednisolone,cyclophosphamides;Cyclophosphamide, Azathioprine,prednisone,methylprednisolone;Mycophenolate mofetil,methotrexate
3 Evaluation of a New Treatment Strategy for Patients With Microscopic Polyangiitis, Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Without Poor Prognosis Factors Completed NCT00647166 Phase 3 corticosteroid and azathioprine;corticosteroid and placebo
4 Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides. A Randomized Controlled Trial. Unknown status NCT00751517 Phase 2 Methotrexate;Cyclophosphamide
5 Lamivudine for Chronic Hepatitis B Completed NCT00001457 Phase 2 Lamivudine
6 An Open Trial of the Efficacy of Glucocorticoids and Methotrexate (MTX) in the Treatment of Systemic Vasculitis Completed NCT00001256 Phase 2 prednisone and methotrexate
7 A Randomized Multicenter Study for Isolated Skin Vasculitis Recruiting NCT02939573 Phase 2 Colchicine;Dapsone;Azathioprine
8 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
9 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
10 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
11 ACR/EULAR Endorsed Study to Develop New Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
12 Educational Needs of Patients With Systemic Vasculitis- an International Survey Completed NCT02190929
13 Illness Perception, Fatigue, and Function in Systemic Vasculitis (The VCRC Vasculitis Perception (VIP) Study) Completed NCT02190916
14 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
15 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
16 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
17 A Staged Therapeutic Approach Using Cyclophosphamide and Methotrexate in the Treatment of Wegener's Granulomatosis and Related Vasculitides Completed NCT00001473
18 Longitudinal Protocol of Polyarteritis Nodosa Recruiting NCT00315406
19 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
20 VCRC Genetic Repository One-Time DNA Protocol Recruiting NCT01241305
21 VCRC Tissue Biorepository Collection Protocol Recruiting NCT02967068
22 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565
23 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
24 Chronic Childhood Vasculitis: Characterizing the Individual Rare Diseases to Improve Patient Outcomes Recruiting NCT02006134
25 VCRC Validation of Patient-Reported Diagnostic Data Enrolling by invitation NCT02190942

Search NIH Clinical Center for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Tetracosactide

Genetic Tests for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Anatomical Context for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards organs/tissues related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

41
Skin, Brain, Liver, Kidney, Spleen, Bone, Neutrophil

Publications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Articles related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 4 8 71
24552285 2014
2
Early-onset stroke and vasculopathy associated with mutations in ADA2. 4 8 71
24552284 2014
3
Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. 38 4 8
30406060 2018
4
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. 4 8
26867732 2016
5
Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). 38 4
30924144 2019
6
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. 38 4
31015188 2019
7
Deficiency of adenosine deaminase 2; special focus on central nervous system imaging. 38 4
29913178 2019
8
Identification of novel Adenosine Deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis. 38 4
31008556 2019
9
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α. 38 4
30642227 2019
10
Childhood Hodgkin Lymphoma: Think DADA2. 38 4
30644014 2019
11
Genetic testing for DADA2: How can we avoid missing patients? 38 4
30206352 2018
12
Warts and DADA2: a Mere Coincidence? 38 4
30386947 2018
13
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. 38 4
30139808 2018
14
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. 38 4
29951947 2018
15
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. 38 4
29681619 2018
16
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. 38 4
29564582 2018
17
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. 38 4
29271561 2018
18
Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure. 38 4
29411230 2018
19
Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. 38 4
28516235 2018
20
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences. 38 4
29963054 2018
21
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 38 4
28974505 2017
22
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 38 4
28983775 2017
23
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. 38 4
28522451 2017
24
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 38 4
28493328 2017
25
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2. 38 4
28230570 2017
26
Monogenic polyarteritis: the lesson of ADA2 deficiency. 38 4
27609179 2016
27
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 38 4
26922074 2016
28
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa. 38 4
26131734 2015
29
Mutant ADA2 in vasculopathies. 8
25075845 2014
30
Mutant ADA2 in vasculopathies. 8
25075846 2014
31
Mutant ADA2 in vasculopathies. 8
25075848 2014
32
ADA2 deficiency due to a novel structural variation in 22q11.1. 4
30920658 2019
33
Treatment Strategies for Deficiency of Adenosine Deaminase 2. 4
30995379 2019
34
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 4
29936104 2018
35
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. 4
29391253 2018
36
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. 4
30692987 2018
37
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 4
28830446 2017
38
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. 4
27514238 2016
39
Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. 4
27059682 2016
40
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. 4
26607704 2016
41
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. 4
27252897 2016
42
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations. 4
26233953 2015
43
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 4
25457153 2015
44
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. 4
24737293 2014
45
Mutations in CECR1 associated with a neutrophil signature in peripheral blood. 4
25278816 2014
46
Safety of anti-TNF agents during pregnancy and breastfeeding in women with inflammatory bowel disease. 4
23752881 2013
47
Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. 4
20453107 2010
48
Structural basis for the growth factor activity of human adenosine deaminase ADA2. 4
20147294 2010
49
Neurological toxicity of long-term (>1 yr) thalidomide therapy in patients with multiple myeloma. 4
15693790 2005
50
Thalidomide inhibits tumor necrosis factor-alpha production and antigen presentation by Langerhans cells. 4
14708607 2003

Variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

ClinVar genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADA2 NM_001282225.2(ADA2): c.973-2A> G single nucleotide variant Pathogenic rs139750129 22:17669339-17669339 22:17188449-17188449
2 ADA2 NM_001282225.2(ADA2): c.1358A> G (p.Tyr453Cys) single nucleotide variant Pathogenic rs376785840 22:17662794-17662794 22:17181904-17181904
3 ADA2 NM_001282225.2(ADA2): c.326C> A (p.Ala109Asp) single nucleotide variant Pathogenic rs587777240 22:17688177-17688177 22:17207287-17207287
4 ADA2 NM_001282225.2(ADA2): c.140G> C (p.Gly47Ala) single nucleotide variant Pathogenic rs200930463 22:17690428-17690428 22:17209538-17209538
5 ADA2 NM_001282225.2(ADA2): c.336C> G (p.His112Gln) single nucleotide variant Pathogenic rs587777241 22:17688167-17688167 22:17207277-17207277
6 ADA2 NM_001282225.2(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 22:17687997-17687997 22:17207107-17207107
7 ADA2 NC_000022.10: g.(?_17669209)_(17669357_?)del deletion Pathogenic 22:17669209-17669357 22:17188319-17188467
8 ADA2 NM_001282225.2(ADA2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs148936893 22:17684454-17684454 22:17203564-17203564
9 ADA2 NM_001282225.2(ADA2): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs200930463 22:17690428-17690428 22:17209538-17209538
10 ADA2 NM_001282225.2(ADA2): c.791G> C (p.Trp264Ser) single nucleotide variant Pathogenic rs587777242 22:17672663-17672663 22:17191773-17191773
11 ADA2 NM_001282225.2(ADA2): c.661_664del (p.Ala221fs) deletion Pathogenic 22:17684542-17684545 22:17203654-17203657
12 ADA2 NM_001282225.2(ADA2): c.144del (p.Arg49fs) deletion Pathogenic 22:17690424-17690424 22:17209540-17209540
13 ADA2 NM_001282225.2(ADA2): c.144dup (p.Arg49fs) duplication Pathogenic/Likely pathogenic 22:17690424-17690424 22:17209534-17209534
14 ADA2 NM_001282225.2(ADA2): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic/Likely pathogenic rs202134424 22:17690429-17690429 22:17209539-17209539
15 ADA2 NM_001282225.2(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic rs1226708979 22:17662883-17662883 22:17181993-17181993
16 ADA2 NM_001282225.2(ADA2): c.927G> A (p.Met309Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146597836 22:17670877-17670877 22:17189987-17189987
17 ADA2 NM_001282225.2(ADA2): c.145C> T (p.Arg49Trp) single nucleotide variant Uncertain significance rs199614299 22:17690423-17690423 22:17209533-17209533
18 ADA2 NM_001282225.2(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance rs1437000359 22:17688069-17688069 22:17207179-17207179
19 ADA2 NM_001282225.2(ADA2): c.83T> C (p.Leu28Pro) single nucleotide variant Uncertain significance rs777404100 22:17690485-17690485 22:17209595-17209595
20 ADA2 NM_001282225.2(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 22:17662378-17662378 22:17181488-17181488
21 ADA2 NM_001282225.2(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 22:17663561-17663561 22:17182671-17182671
22 ADA2 NM_001282225.2(ADA2): c.139G> T (p.Gly47Trp) single nucleotide variant Uncertain significance rs202134424 22:17690429-17690429 22:17209539-17209539
23 ADA2 NM_001282225.2(ADA2): c.278T> C (p.Ile93Thr) single nucleotide variant Uncertain significance rs767399919 22:17690290-17690290 22:17209400-17209400
24 ADA2 NM_001282225.2(ADA2): c.1465G> C (p.Glu489Gln) single nucleotide variant Uncertain significance rs45497794 22:17662444-17662444 22:17181554-17181554
25 ADA2 NM_001282225.2(ADA2): c.186G> T (p.Arg62Ser) single nucleotide variant Uncertain significance rs1555887378 22:17690382-17690382 22:17209492-17209492
26 ADA2 NM_001282225.2(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 22:17684477-17684477 22:17203587-17203587
27 ADA2 NM_001282225.2(ADA2): c.1467G> C (p.Glu489Asp) single nucleotide variant Uncertain significance 22:17662442-17662442 22:17181552-17181552
28 ADA2 NM_001282225.2(ADA2): c.1423C> A (p.Leu475Met) single nucleotide variant Uncertain significance 22:17662729-17662729 22:17181839-17181839
29 ADA2 NM_001282225.2(ADA2): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance 22:17662767-17662767 22:17181877-17181877
30 ADA2 NM_001282225.2(ADA2): c.359C> T (p.Thr120Ile) single nucleotide variant Uncertain significance 22:17688144-17688144 22:17207254-17207254
31 ADA2 NM_001282225.2(ADA2): c.194C> T (p.Thr65Met) single nucleotide variant Uncertain significance 22:17690374-17690374 22:17209484-17209484
32 ADA2 NC_000022.10: g.(?_17662353)_(17663671_?)dup duplication Uncertain significance 22:17662353-17663671 22:17181463-17182781
33 ADA2 NM_001282225.2(ADA2): c.100C> T (p.Arg34Trp) single nucleotide variant Uncertain significance 22:17690468-17690468 22:17209578-17209578
34 ADA2 NM_001282225.2(ADA2): c.143G> A (p.Gly48Glu) single nucleotide variant Uncertain significance rs140149634 22:17690425-17690425 22:17209535-17209535
35 ADA2 NM_001282225.2(ADA2): c.1069G> A (p.Ala357Thr) single nucleotide variant Uncertain significance 22:17669241-17669241 22:17188351-17188351
36 ADA2 NM_001282225.2(ADA2): c.935G> C (p.Arg312Pro) single nucleotide variant Uncertain significance 22:17670869-17670869 22:17189979-17189979
37 ADA2 NM_001282225.2(ADA2): c.578C> T (p.Pro193Leu) single nucleotide variant Uncertain significance 22:17684628-17684628 22:17203738-17203738
38 ADA2 NM_001282225.2(ADA2): c.461G> A (p.Arg154His) single nucleotide variant Uncertain significance 22:17688042-17688042 22:17207152-17207152
39 ADA2 NM_001282225.2(ADA2): c.377G> A (p.Arg126Lys) single nucleotide variant Uncertain significance 22:17688126-17688126 22:17207236-17207236
40 ADA2 NM_001282225.2(ADA2): c.362T> C (p.Met121Thr) single nucleotide variant Uncertain significance 22:17688141-17688141 22:17207251-17207251
41 ADA2 NM_001282225.2(ADA2): c.1118A> T (p.Asp373Val) single nucleotide variant Uncertain significance 22:17663615-17663615 22:17182725-17182725
42 ADA2 NM_001282225.2(ADA2): c.1018G> T (p.Ala340Ser) single nucleotide variant Uncertain significance 22:17669292-17669292 22:17188402-17188402
43 ADA2 NM_001282225.2(ADA2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance 22:17669303-17669303 22:17188413-17188413
44 ADA2 NM_001282225.2(ADA2): c.950C> T (p.Thr317Met) single nucleotide variant Uncertain significance 22:17670854-17670854 22:17189964-17189964
45 ADA2 NM_001282225.2(ADA2): c.784G> A (p.Glu262Lys) single nucleotide variant Uncertain significance 22:17672670-17672670 22:17191780-17191780
46 ADA2 NM_001282225.2(ADA2): c.688C> T (p.Arg230Trp) single nucleotide variant Uncertain significance 22:17684518-17684518 22:17203628-17203628
47 ADA2 NM_001282225.2(ADA2): c.104C> T (p.Ala35Val) single nucleotide variant Uncertain significance 22:17690464-17690464 22:17209574-17209574
48 ADA2 NM_001282225.2(ADA2): c.79G> T (p.Ala27Ser) single nucleotide variant Uncertain significance 22:17690489-17690489 22:17209599-17209599
49 ADA2 NM_001282225.2(ADA2): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance 22:17690542-17690542 22:17209652-17209652
50 covers 12 genes, none of which curated to show dosage sensitivity NC_000022.10: g.(?_17565962)_(18570861_?)dup duplication Uncertain significance 22:17565962-18570861 :0-0

UniProtKB/Swiss-Prot genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Gly47Arg VAR_071137 rs202134424
2 ADA2 p.Gly47Val VAR_071138 rs200930463
3 ADA2 p.Ala109Asp VAR_071139 rs587777240
4 ADA2 p.His112Gln VAR_071140 rs587777241
5 ADA2 p.Arg169Gln VAR_071141 rs77563738
6 ADA2 p.Pro251Leu VAR_071142 rs148936893
7 ADA2 p.Trp264Ser VAR_071143 rs587777242
8 ADA2 p.Tyr453Cys VAR_071144 rs376785840

Expression for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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